ClinVar Miner

Submissions for variant NC_012920.1:m.15060G>A

dbSNP: rs1057516072
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000855214 SCV000998264 uncertain significance Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.15060G>A (YP_003024038.1:p.Gly105Glu) variant in MTCYB gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PP7
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal RCV000408920 SCV000484539 likely pathogenic Epilepsy; Bilateral lesions of basal ganglia 2016-11-21 no assertion criteria provided clinical testing

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